ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830345109
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480958
RCV000678193
RCV001850942
RCV003315343
ClinVar Variation:
369807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Met560Val
CA10654781
NM_172106.3:c.1678A>G